摘要
目的：运用２ 号染色体上与ＣＯＬ４Ａ３／ＣＯＬ４Ａ４ 基因紧密连锁的微卫星标志ＰＡＸ３ 及Ｄ２Ｓ４０１ ，对９ 个薄基底膜肾病家系进行基因连锁分析，并对薄基底膜肾病患者ＣＯＬ４Ａ４ 基因上文献报道的一个点突变进行研究。方法：ＰＣＲ 扩增９ 例薄基底膜肾病患者及其家系成员２ 号染色体上的微卫星标志ＰＡＸ３ 及Ｄ２Ｓ４０１ ，１０ ％ 聚丙烯酰胺凝胶电泳后银染分析结果，运用ＰＰＡＰ软件计算Ｌｏｄ ｓｃｏｒｅ 值；ＰＣＲ 扩增９ 例薄基底膜肾病患者ＣＯＬ４Ａ４ 基因上文献报道的Ｇ→Ａ（Ｇｌｙ→Ｇｌｕ）的点突变，Ａｌｕｌ 酶切后分析结果。 结果：３ 个家系的薄基底膜肾病与２ 号染色体上的ＣＯＬ４Ａ３／ＣＯＬ４Ａ４ 基因连锁，座位间的Ｌｏｄ ｓｃｏｒｅ 值为３－１０ ，θ＝ ０－００ ，未在９ 例薄基底膜肾病患者ＣＯＬ４Ａ４ 基因上发现文献报道的Ａｌｕｌ 酶切位点。 结论：常染色体显现遗传的薄基底膜肾病与位于２ 号染色体上的ＣＯＬ４Ａ３／ＣＯＬ４Ａ４ 基因连锁，未在９ 例薄基底膜肾病患者ＣＯＬ４Ａ４ 基因上发现文献报道的Ｇ→Ａ（Ｇｌｙ→Ｇｌｕ） 的点突变。
We performed genetic analysis on 9 pedigrees of Thin Basement Membrane Nephropathy by using microsatellite markers PAX3 and D2S401 closely linked with COL4A3/COL4A4 gene located on chromosome 2,and by studying one point mutation in COL4A4 gene of 9 TBMN by digesting PCR products with restriction enzyme. METHODOLOGY Genomic DNA was extracted.Highly polymorphic microsatellite markers (PAX3 and D2S401)closely linked with COL4A3/COL4A4 gene located on chromosome 2 were amplified using PCR.Nine TBMN families were analyzed.One DNA fragment with possible point mutation was PCR amplified and was digested with restrictive enzyme Alul. RESULTS Three of the 9 TBMN families were linked with COL4A3/COL4A4 gene located on chromosome 2(lod score=3 1,θ=0 00).No Alul locus was found in COL4A3/COL4A4 gene in 9 TBMN,and no G→A(Gly→Glu)point mutation was detected. CONCLUSION Autosomal dominant TBMN was linked with COL4A3/COL4A4 gene on chromosome 2.
出处
《肾脏病与透析肾移植杂志》
CAS
CSCD
1999年第6期522-524,共3页
Chinese Journal of Nephrology,Dialysis & Transplantation
基金
国家自然科学基金!课题号3970353
关键词
薄基底膜肾病
连锁分析
遗传基因
thin basement membrane nephropathy linkage analysis genetic gene
